Ontology highlight
ABSTRACT:
SUBMITTER: Zhang MZ
PROVIDER: S-EPMC356947 | biostudies-literature | 2004 Feb
REPOSITORIES: biostudies-literature
Zhang Ming-Zhi MZ Mai Weiyi W Li Cunxi C Cho Sae-youll SY Hao Chuanming C Moeckel Gilbert G Zhao Runxiang R Kim Ingyu I Wang Jikui J Xiong Huaqi H Wang Hong H Sato Yasunori Y Wu Yizhong Y Nakanuma Yasuni Y Lilova Marusia M Pei York Y Harris Raymond C RC Li Song S Coffey Robert J RJ Sun Le L Wu Dianqing D Chen Xing-Zhen XZ Breyer Matthew D MD Zhao Zhizhuang Joe ZJ McKanna James A JA Wu Guanqing G
Proceedings of the National Academy of Sciences of the United States of America 20040201 8
Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human tissues by using polyclonal Abs and mAbs recognizing various specific regions of the gene product. During embryogenesis, PKHD1 is widely expressed ...[more]